These include metabolic disorders such as infantile sialic acid storage disease (OMIM#269920) (Lefebvre et al., 1999), mucopolysaccharidosis type VII (OMIM#253220) (Nelson et al., 1982), glycogen storage disease IV (OMIM#232500) (Cox et al., 1999), and LMPHM6 (Fotiou et al., 2015). The gene discussed is PIEZO1; the disease is glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form.